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Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal- Dominant Dowling-Degos Disease F. Buket Basmanav, Ana-Maria Oprisoreanu,

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Presentation on theme: "Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal- Dominant Dowling-Degos Disease F. Buket Basmanav, Ana-Maria Oprisoreanu,"— Presentation transcript:

1 Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal- Dominant Dowling-Degos Disease F. Buket Basmanav, Ana-Maria Oprisoreanu, Sandra M. Pasternack, Holger Thiele, Günter Fritz, Jörg Wenzel, Leopold Größer, Maria Wehner, Sabrina Wolf, Christina Fagerberg, Anette Bygum, Janine Altmüller, Arno Rütten, Laurent Parmentier, Laila El Shabrawi- Caelen, Christian Hafner, Peter Nürnberg, Roland Kruse, Susanne Schoch, Sandra Hanneken, Regina C. Betz The American Journal of Human Genetics Volume 94, Issue 1, Pages 135-143 (January 2014) DOI: 10.1016/j.ajhg.2013.12.003 Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

2 Figure 1 The American Journal of Human Genetics 2014 94, 135-143DOI: (10.1016/j.ajhg.2013.12.003) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

3 Figure 2 The American Journal of Human Genetics 2014 94, 135-143DOI: (10.1016/j.ajhg.2013.12.003) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

4 Figure 3 The American Journal of Human Genetics 2014 94, 135-143DOI: (10.1016/j.ajhg.2013.12.003) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions

5 Figure 4 The American Journal of Human Genetics 2014 94, 135-143DOI: (10.1016/j.ajhg.2013.12.003) Copyright © 2014 The American Society of Human Genetics Terms and Conditions Terms and Conditions


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